E17* (p.Glu17Ter) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
E17* (p.Glu17Ter) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- gnomAD 15-39934244-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available